Myology research highlights
RSS feedAAV9 gene replacement therapy for respiratory insufficiency in very-long chain acyl-CoA dehydrogenase deficiency
Very-long chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is an autosomal recessive disorder of fatty acid oxidation. Fatty acids are a major source of energy during catabolic stress, so the absence of VLCAD can result in a metabolic crises and respiratory insufficiency. The etiology of this respiratory insufficiency is unclear. Thus, the aims of the authors … [Read more]
Nocebo effect in myasthenia gravis: systematic review and meta-analysis of placebo-controlled clinical trials
Nocebo refers to the adverse events (AEs) experienced when taking a placebo drug and is believed to be a centrally mediated process. The authors sought to examine the AEs following placebo administration in Randomised Controlled Trials (RCTs) for Myasthenia Gravis (MG) patients. A systematic literature search was performed on Medline and Web of Science for … [Read more]
Unraveling upper extremity performance in DMD: a biophysical model
This study aimed to identify critical physiological outcome variables underlying reduced upper extremity task performance in Duchenne muscular dystrophy (DMD). These critical variables were used to propose an explanatory biophysical model of the upper extremity working mechanisms in DMD. Twenty-three DMD patients (8-21 years) participated in this study. Correlations with Brooke scale and Performance of … [Read more]
European regulators’ views on a wearable-derived performance measurement of ambulation for DMD regulatory trials
Development of novel therapies for Duchenne muscular dystrophy (DMD) are driving the need for more efficient ways of detecting changes in disease-progression in DMD. However, medicines’ approval must be based on outcome measures that are acceptable from a regulatory perspective. In this article, European regulators provide an update on the recent regulatory consideration of a … [Read more]
Long-term natural history data in DMD ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53
The aim of this international collaborative effort was to report 36-month longitudinal changes using the 6MWT in ambulant patients affected by Duchenne muscular dystrophy amenable to skip exons 44, 45, 51 or 53. Of the 92 patients included in the study, 24 had deletions amenable to skip exon 44, 27 exon 45, 18 exon 51, … [Read more]
Development and validation of a new risk prediction score for life-threatening ventricular tachyarrhythmias in Laminopathies
An accurate estimation of the risk of life-threatening (LT) ventricular tachyarrhythmia (VTA) in patients with LMNA mutations is crucial to select candidates for implantable cardioverter-defibrillator implantation. The authors included 839 adult patients with LMNA mutations, including 660 from a French nationwide registry in the development sample, and 179 from other countries in the validation sample. … [Read more]
Neurochemical markers in CSF of adolescent and adult SMA patients undergoing nusinersen treatment
There is limited information on neurochemical markers being used to support and monitor the affection of motoneurons in patients with spinal muscular atrophy (SMA). The objective of this study was to examine neurochemical markers in cerebrospinal fluid (CSF) under treatment with the antisense-oligonucleotide (ASO), nusinersen. The researchers measured markers of axonal degeneration [neurofilament light chain … [Read more]
Impact of age and motor function in a phase 1/2A study of infants with SMA type 1 receiving single-dose gene replacement therapy
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder characterized by progressive degeneration of lower motor neurons in the spinal cord, resulting in skeletal muscle atrophy and muscle weakness. This study characterizes motor function responses after early dosing of AVXS-101 (onasemnogene abeparvovec) in gene replacement therapy in infants with severe spinal muscular atrophy type … [Read more]
Gene therapy as a potential therapeutic option for DMD: a qualitative preference study of patients and parents
Duchenne muscular dystrophy (DMD) is a rare neuromuscular disorder that causes progressive weakness and early death. Gene therapy is an area of new therapeutic development. This qualitative study explored factors influencing parents’ and adult patients’ preferences about gene therapy. The authors report qualitative data from 17 parents of children with DMD and 6 adult patients. … [Read more]
Priorities when deciding on participation in early-phase gene therapy trials for DMD: a best-worst scaling experiment in caregivers and adult patients
Several gene therapy trials for Duchenne muscular dystrophy have been initiated in 2018. Trial decision making is complicated by non-curative, time-limited benefits; the progressive, fatal course; and high unmet needs. Here, caregivers and patients prioritize factors influencing decision making regarding participation in early-phase gene therapy trials. The authors conducted a best-worst scaling experiment among U.S. … [Read more]
